Varaico: Literature-Extracted Genetic Variants

LTBP3

169 papers

RefSeq Summary

The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires rem...

Pfam Domains

hEGFaa 117–135UCSCHuman growth factor-like EGF

TBaa 288–329UCSCTB domain

EGF_CAaa 355–394UCSCCalcium-binding EGF domain

TBaa 413–455UCSCTB domain

cEGFaa 596–619UCSCComplement Clr-like EGF-like

EGF_CAaa 660–701UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

latent transforming growth factor beta binding protein 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001130144.3

p.S598F

c.1793C>T

Surrounding Variants

1 paper

NM_001130144.3

p.S598Y

c.1793C>A

1 paper

NM_001130144.3

p.Y597S

c.1790A>C

1 paper

NM_001130144.3

p.R606Q

c.1817G>A

1 paper

NM_001130144.3

p.C614delFs

c.1842delG

4 papers

NM_001130144.3

p.D616Splc

c.1846+5G>A

1 paper

NM_001130144.3

p.R579G

c.1735C>G

4 papers

NM_001130144.3

p.E574Splc

c.1721-2A>G

4 papers

NM_001130144.3

p.C620insFs

c.1858_1859insG

6 papers

NM_001130144.3

p.C620fs

c.1858_1859fs

1 paper

NM_001130144.3

p.C620W

c.1860C>G

1 paper

NM_001130144.3

p.G628A

c.1883G>C

1 paper

NM_001130144.3

p.E574Splc

c.1721-145G>C